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Usher syndrome is a disorder that is passed down through families (inherited). A syndrome is a group of recognizable symptoms that happen together. Usher syndrome includes both hearing loss and vision loss. The hearing loss may be mild to complete. The vision problem is called retinitis pigmentosa. The retinas of the eyes are slowly damaged over time. The retinas receive light and play a very important part in being able to see. Usher syndrome is the most common childhood condition that affects both vision and hearing.
Usher syndrome is passed on from unaffected parents to their children. It may be inherited when both parents are carriers of an abnormal gene. If both parents have the gene, they have a 1 in 4 chance of having a child with Usher syndrome with each pregnancy.
Symptoms depend on the type of Usher syndrome. But they often include problems with hearing or deafness, balance, and eyesight or blindness. There are several types and many subtypes of the syndrome. Generally, 3 types are identified:
Type 1. This includes deafness (profound hearing loss) at birth and severe balance problems. Vision problems often begin before the child is 10 years old. Trouble seeing at night is often the first vision problem noted. The child's vision gets worse as he or she grows.
Type 2. This includes moderate to severe hearing loss but no balance problems. Vision problems often are found during the late teens.
Type 3. This includes normal to near-normal hearing and balance at birth. The child may develop balance problems as he or she gets older. Hearing and vision problems often occur during the teen years. By the time the child reaches middle adulthood, he or she may be legally blind.
Most children diagnosed with Usher syndrome have type 1 or type 2.
All newborn babies are screened for hearing problems. If a hearing problem is found in a newborn, the baby will have follow-up testing. Your child's healthcare provider will test hearing, eyesight, and balance to diagnose Usher syndrome. The tests include:
Electronystagmography (ENG). This test checks eye movements to help diagnose balance problems.
Vision testing. Different tests are used to test the eyesight of very young children.
Eye exam. An eye care provider will look at the retina during an eye exam.
Electroretinography (ERG). This test checks how the retina reacts to light. It is used to diagnose retinitis pigmentosa.
Hearing evaluation. A hearing specialist will examine the ear. They will also do a series of tests to check your child’s hearing.
One a child is diagnosed, he or she may have genetic testing to find out the type of Usher syndrome.
Treatment will depend on your child’s symptoms, age, and general health. It will also depend on how severe the condition is.
Usher syndrome has no cure. Spotting it early is very important. Then support and education can begin as soon as possible. Treatment may include:
Cochlear implants
Hearing aids
Hearing or auditory training
Low vision support
Speech, physical, and occupational therapy
Orientation and mobility training to help with balance
Counseling to help you and your child deal with a long-term health problem
The hearing, vision, and balance problems may get worse over time. Your child will need ongoing care and support, as their needs change.
Call your child’s healthcare provider if you notice your child is having trouble with his or her eyesight, hearing, or balance.
Usher syndrome is an inherited problem that includes hearing loss, vision loss, and balance problems.
Usher syndrome is passed on from unaffected parents to their children.
If both parents are carriers, they have a 1 in 4 chance of having a child with Usher syndrome with each pregnancy.
Hearing, vision, and balance tests are used to diagnose Usher syndrome.
There is no known cure for Usher syndrome.
Finding the syndrome early is important. Then support and education programs can begin as soon as possible.
Tips to help you get the most from a visit to your child’s healthcare provider:
Know the reason for the visit and what you want to happen.
Before your visit, write down questions you want answered.
At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.
Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are.
Ask if your child’s condition can be treated in other ways.
Know why a test or procedure is recommended and what the results could mean.
Know what to expect if your child does not take the medicine or have the test or procedure.
If your child has a follow-up appointment, write down the date, time, and purpose for that visit.
Know how you can contact your child’s provider after office hours. This is important if your child becomes ill and you have questions or need advice.